Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001368324 | SCV001564715 | uncertain significance | Atrial fibrillation, familial, 14 | 2022-09-13 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs771234231, gnomAD 0.005%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1059103). This variant has not been reported in the literature in individuals affected with SCN2B-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 98 of the SCN2B protein (p.Arg98Cys). |
| Ambry Genetics | RCV002438858 | SCV002748779 | uncertain significance | Cardiovascular phenotype | 2021-01-12 | criteria provided, single submitter | clinical testing | The p.R98C variant (also known as c.292C>T), located in coding exon 3 of the SCN2B gene, results from a C to T substitution at nucleotide position 292. The arginine at codon 98 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |